Heterozygous C.916C>T Mutation

Hey all, our day was a bit like the weather here in Cootehill! Amelie started out bright and sunny but as the day wore on, just like the skys above us she began to grow more and more dark looking. She did some lovely vocalization but then began to self harm again. I hate when she does that!!! Grrr....... Anyway she then got sick all over herself after eating our friends flowers, someone needs to tell her she isn't a bee! :) When we got home Stephen gave her a shower (we have no bath) and she calmed a little. Above is a picture of her after her bath... Nom nom nom! If I do say so myself. She went to bed after eating a plate of sweet and sour chicken and rice (we notice she has been mouthing a little more during meal times lately). She went to sleep no problems after a few bangs of her head. So I decided to fill in some of the forms that we have been given and I found the note that Dr.Nick gave us with her mutation on it. It is called "Heterozygous C.916C>T Mutation"... and I HATE it! I hate that this damned thing has taken my little girls voice and independence. I hate that it has taken her normality. I hate the fact that there is a cure close by but uncertain if it would even benefit our girl. But the thing that I hate most is the fact that I have the thought of her being buried in next to Liam sitting at the back of my mind nearly every hour of every day. Oh well, another day another doller..... Or should I say Euro! I have collected all the money for the Reverse Rett bands that I got sent over from England, so Mr JW should be getting a little bit for his Cure for Carys. Some lovely people donated some more cash to Cure Kiki, which you can all do by clicking on the link on the left hand side. We have a few Rett fundraiser things to go to next week, we are heading to Croke Park on Monday to watch a Gaelic match in aid of Rett Syndrome Ireland and next Friday we are heading to a benefit for the Holly Murphy Fund in Fermanagh, its all go!!! Must go now as we have the swimming pool to prepare for for the morning... Fun times ;)